I was wanting to get feedback from other members who have a family history of HSP. My family has a high incidence of autosomal dominant HSP (so that means I have a 50% chance of inheritance) and recently I had a cousin visit from overseas and he told me that all my overseas cousins had been tested for HSP. Our family is the only one living in Australia. My father is from a very large family and about 1/2 of his siblings and his mother had varying degrees of HSP. My father is one of the worst affected in his family. It is difficult for me to discuss this condition with overseas relatives, as I do not really know them and it is sort of a “taboo subject”.
Over the years, myself and other siblings on 2 different occasions made attempts to get tested, but the psychologists we were referred to, really seemed to discourage testing. Maybe they thought we could not handle the diagnosis? Other family members have either discouraged testing also and / or have been frightened to carry through with diagnosis. So today, no immediate family member has been diagnosed (with the exception of my father). But I always have this feeling that I should get tested and know the truth, but some comments from others have been “you show no signs at the moment, so why worry about it”?
I decided against children due to the possibility of having HSP, but other siblings have had all the children they intended to have. But I would be interested to know other people’s experience with being tested and would they recommend testing?
Some of my queries:
- Is testing a difficult process?
- How do people generally cope with the diagnosis?
- Would other people who have HSP in their family encourage all family members to be tested, even when they showed no obvious symptoms?
- After a positive diagnosis, are there issues with insurance or obtaining employment?
- Do you think being diagnosed would allow for better family planning?
- One feeling I have is that a positive diagnosis could make a person develop symptoms earlier, even if they were previously OK – like mind over matter?
Reply from Ted
I was interested to read your post gene testing. I was diagnosed with HSP about 3 years ago but have been displaying symptoms for at least 5 years. My father also had HSP symptoms but was never definitively diagnosed and has now passed away. My wife and I were very worried about what was wrong with me having known people with several life threatening and life shortening diseases such as Huntingtons, Parkinsons, Motor Neuron, and MS. Getting a diagnosis of HSP was a relief for us all. Knowing a name was very important to us. Understanding the condition and its progression has helped us in dealing with it.
I was interested in the gene testing but because it was not available in Australia and nobody else in my family was displaying symptoms, I could not justify the expense which was going to be some $5,000 – with no guarantee that anything would be found.
Now that the gene testing is available in Australia I have been tested and I am now awaiting the results.
In context, of my immediate family of 2 brothers and 1 sister, I am the only one displaying symptoms. I have 4 children and three grandchildren and my siblings have between them 8 children, and 5 grandchildren. I have not included extended family (cousins etc) because they are in the UK predominantly.
My understanding is that if my gene test identifies which gene is the problem, then EVERYONE related to me can be easily tested to identify if they also have the gene mutation whether or not they are displaying symptoms.
I can understand not wanting to know but I think that the technology available today has created an opportunity whereby HSP can be identified and arrested in my family.
I have a daughter who is yet to have children. Once a result comes through from my tests, she will be able to be tested also and if free of the mutation, can have children without fear. If she does have the mutation then she is in a position to make informed decisions and factor the possibility of HSP into her life plans.
My two sons are a long way from having children at this time but the same will be available to them when needed. This is also true of my nephews and nieces.
I am of the opinion that it is better to know than not to know and for my family I await the results of the test keenly.
I hope this helps
Reply from Steve
I am of a similar view to Ted. I have 3 daughters aged 20 to 29 showing no signs of HSP. I would love to be able to tell my kids no you don’t have HSP, but until I have any results from gene testing I cannot.
My sister, who also shows no signs of HSP, has always said no I do not want to know, but now, one of her daughters wants to know, so that she can consider children.
Once a gene has been identified then anyone in the family can be quickly and cheaply assessed. If the test is positive then family planning can be addressed.
There are moral considerations that must be included but it is possible to eliminate HSP from future generations.